Canonical Allele Identifier: PA916026888
Gene: GALNS HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Ser126Leu
CA8235187
NM_001323544.2:c.377C>T